Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767512_28767513insAA , CM000676.2:g.28767512_28767513insAA | GRCh38 |
| NC_000014.8:g.29236718_29236719insAA , CM000676.1:g.29236718_29236719insAA | GRCh37 |
| NC_000014.7:g.28306469_28306470insAA | NCBI36 |
| NG_009367.1:g.5432_5433insAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.233_234insAA MANE Select | NP_005240.3:p.Pro79SerfsTer? |
| ENST00000313071.7:c.233_234insAA MANE Select | ENSP00000339004.3:p.Pro79SerfsTer? |
| NM_005249.4:c.233_234insAA | NP_005240.3:p.Pro79SerfsTer? |
| ENST00000313071.6:c.233_234insAA | ENSP00000339004.3:p.Pro79SerfsTer? |
| ENST00000706482.1:c.233_234insAA | ENSP00000516406.1:p.Pro79SerfsTer? |